Neurodevelopmental disorders related to protein phosphatase 2A (PP2A) have been recently renamed as Houge-Janssens syndrome and they are caused by heterozygous, de novo pathogenic genetic variants in the PPP2R5D, PPP2R1A or PPP2CA genes. The syndrome is characterized by features such as intellectual disability, autism, developmental delay, seizures or brain abnormalities, among others.
Starting with a study of how mutations affect sensitivity to 10 molecularly targeted drugs, researchers have laid the foundations for a prospective, systematic approach to understanding the genetic mechanisms behind cancer drug resistance.
Starting with a study of how mutations affect sensitivity to 10 molecularly targeted drugs, researchers have laid the foundations for a prospective, systematic approach to understanding the genetic mechanisms behind cancer drug resistance. These insights will inform the development of drugs that avoid resistance emerging. For existing drugs, it will be possible to better tailor treatment and to identify second-line therapies for patients whose tumors become resistant.
A new study has shown that when a gene is mutated and its copy number is altered, the risk of that gene contributing to the development of cancer increases. Although it was already known that both variations together promoted cancer, it had not been described how the link between the two leads to the progression of tumors and what implications it had on the genetics of cancer.
There is growing evidence of the role of soluble endoglin in the biology of platelets, including thrombosis. French researchers have investigated the role of genetic variants in the gene encoding endoglin, ENG, and the risk of venous thrombosis development.
One in every 500 newborns worldwide are affected by nonsyndromic hearing loss (NSHL). Whole-exome sequencing may help in identifying the genetic cause of NSHL.
Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disease for which there is a 10% rate of familial cases, with the rest being sporadic cases. Both genetic and environmental factors contribute to the etiology of ALS, and more than 120 genes have been reported to be tied to the disease, but few with strong association. Thus, identifying additional genes contributing to ALS will help shed light on the disease and its related therapies.
Bleeding of unknown cause is a group of rare disorders that are still difficult to accurately diagnose. A case report on a patient with hematoma in the perineal region after her first delivery was presented.
Prune belly syndrome (PBS), also known as Eagle-Barrett syndrome, is a rare multisystemic congenital myopathy that mainly affects males, and which is incompletely understood genetically speaking.
In an article published on Dec. 18, 2023, in Nature, researchers from the Centre for Genomic Regulation in Barcelona (Spain) and Wellcome Sanger Institute in Hinxton (U.K.) reported achieving a milestone regarding KRAS targeting in cancer. The team quantified the impact of >26,000 KRAS variants and how these mutations affected protein folding and its interaction with the six main effectors – RAF1, PIK3CG, RALGDS, SOS1, K27 and K55.
